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Fusion gene ID: 43199 |
FusionGeneSummary for ZNF318_PPP1R9B |
Fusion gene summary |
Fusion gene information | Fusion gene name: ZNF318_PPP1R9B | Fusion gene ID: 43199 | Hgene | Tgene | Gene symbol | ZNF318 | PPP1R9B | Gene ID | 24149 | 84687 |
Gene name | zinc finger protein 318 | protein phosphatase 1 regulatory subunit 9B | |
Synonyms | HRIHFB2436|TZF|ZFP318 | PPP1R6|PPP1R9|SPINO|Spn | |
Cytomap | 6p21.1 | 17q21.33 | |
Type of gene | protein-coding | protein-coding | |
Description | zinc finger protein 318endocrine regulatorendocrine regulatory proteintesticular zinc finger | neurabin-2neurabin-IIprotein phosphatase 1, regulatory (inhibitor) subunit 9Bprotein phosphatase 1, regulatory subunit 9B, spinophilin | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q5VUA4 | Q96SB3 | |
Ensembl transtripts involved in fusion gene | ENST00000607252, ENST00000318149, ENST00000361428, | ENST00000316878, ENST00000501501, | |
Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 2 X 2 X 1=4 |
# samples | 7 | 2 | |
** MAII score | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ZNF318 [Title/Abstract] AND PPP1R9B [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | PPP1R9B | GO:0030308 | negative regulation of cell growth | 11278317 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF858817 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000607252 | ENST00000316878 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
intron-5UTR | ENST00000607252 | ENST00000501501 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
intron-3UTR | ENST00000318149 | ENST00000316878 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
intron-5UTR | ENST00000318149 | ENST00000501501 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
intron-3UTR | ENST00000361428 | ENST00000316878 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
intron-5UTR | ENST00000361428 | ENST00000501501 | ZNF318 | chr6 | 43336672 | + | PPP1R9B | chr17 | 48211511 | + |
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FusionProtFeatures for ZNF318_PPP1R9B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ZNF318 | PPP1R9B |
Isoform 2: Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptionalregulator during spermatogenesis and, in particular, duringmeiotic division. {ECO:0000250|UniProtKB:Q99PP2}. Isoform 1: Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptionalregulator during spermatogenesis and, in particular, duringmeiotic division. {ECO:0000250|UniProtKB:Q99PP2}. | Seems to act as a scaffold protein in multiple signalingpathways. Modulates excitatory synaptic transmission and dendriticspine morphology. Binds to actin filaments (F-actin) and showscross-linking activity. Binds along the sides of the F-actin. Mayplay an important role in linking the actin cytoskeleton to theplasma membrane at the synaptic junction. Believed to targetprotein phosphatase 1/PP1 to dendritic spines, which are rich inF-actin, and regulates its specificity toward ion channels andother substrates, such as AMPA-type and NMDA-type glutamatereceptors. Plays a role in regulation of G-protein coupledreceptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex fordopaminergic neurotransmission through D2 receptors by linkingreceptors downstream signaling molecules and the actincytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation ofADRA1B signaling. May confer to Rac signaling specificity bybinding to both, RacGEFs and Rac effector proteins. Probablyregulates p70 S6 kinase activity by forming a complex with TIAM1(By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration. {ECO:0000250,ECO:0000269|PubMed:19151759}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ZNF318_PPP1R9B |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ZNF318_PPP1R9B |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ZNF318_PPP1R9B |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ZNF318_PPP1R9B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PPP1R9B | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | PPP1R9B | C0037199 | Sinusitis | 1 | CTD_human |